Incidental Mutation 'IGL01672:Samd3'
ID |
103543 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Samd3
|
Ensembl Gene |
ENSMUSG00000051354 |
Gene Name |
sterile alpha motif domain containing 3 |
Synonyms |
LOC268288 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.177)
|
Stock # |
IGL01672
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
26105605-26148070 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 26146067 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Isoleucine
at position 364
(N364I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151558
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040219]
[ENSMUST00000060716]
[ENSMUST00000105519]
[ENSMUST00000220219]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000040219
|
SMART Domains |
Protein: ENSMUSP00000037619 Gene: ENSMUSG00000039089
Domain | Start | End | E-Value | Type |
low complexity region
|
154 |
166 |
N/A |
INTRINSIC |
low complexity region
|
204 |
214 |
N/A |
INTRINSIC |
MBT
|
232 |
332 |
3.75e-48 |
SMART |
MBT
|
340 |
439 |
3.67e-42 |
SMART |
MBT
|
448 |
543 |
7.5e-48 |
SMART |
low complexity region
|
604 |
615 |
N/A |
INTRINSIC |
low complexity region
|
662 |
770 |
N/A |
INTRINSIC |
SAM
|
808 |
875 |
2.49e-13 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000060716
AA Change: N364I
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000057805 Gene: ENSMUSG00000051354 AA Change: N364I
Domain | Start | End | E-Value | Type |
SAM
|
1 |
66 |
3e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000105519
|
SMART Domains |
Protein: ENSMUSP00000101158 Gene: ENSMUSG00000039089
Domain | Start | End | E-Value | Type |
low complexity region
|
129 |
141 |
N/A |
INTRINSIC |
low complexity region
|
179 |
189 |
N/A |
INTRINSIC |
MBT
|
207 |
307 |
3.75e-48 |
SMART |
MBT
|
315 |
414 |
3.67e-42 |
SMART |
MBT
|
423 |
518 |
7.5e-48 |
SMART |
low complexity region
|
579 |
590 |
N/A |
INTRINSIC |
low complexity region
|
637 |
745 |
N/A |
INTRINSIC |
SAM
|
783 |
850 |
2.49e-13 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218585
|
Predicted Effect |
unknown
Transcript: ENSMUST00000219738
AA Change: N37I
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000220219
AA Change: N364I
PolyPhen 2
Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
G |
6: 121,618,316 (GRCm39) |
E203G |
probably damaging |
Het |
Ano1 |
G |
T |
7: 144,209,412 (GRCm39) |
Q206K |
probably damaging |
Het |
Ap4e1 |
T |
A |
2: 126,894,109 (GRCm39) |
S620T |
probably damaging |
Het |
Arfip1 |
A |
T |
3: 84,455,339 (GRCm39) |
|
probably benign |
Het |
Atp8a2 |
A |
T |
14: 59,928,982 (GRCm39) |
M1024K |
probably benign |
Het |
Brap |
T |
C |
5: 121,816,908 (GRCm39) |
|
probably benign |
Het |
Calcrl |
T |
A |
2: 84,175,414 (GRCm39) |
T287S |
probably damaging |
Het |
Clptm1l |
G |
A |
13: 73,755,992 (GRCm39) |
|
probably null |
Het |
Cpb1 |
T |
A |
3: 20,329,585 (GRCm39) |
Q47L |
probably null |
Het |
Cse1l |
T |
C |
2: 166,771,887 (GRCm39) |
I402T |
probably damaging |
Het |
Dnah17 |
A |
G |
11: 117,932,986 (GRCm39) |
S3591P |
probably damaging |
Het |
Dst |
T |
G |
1: 34,264,774 (GRCm39) |
I2322S |
probably damaging |
Het |
Dync2h1 |
G |
A |
9: 7,118,884 (GRCm39) |
R2194* |
probably null |
Het |
Ecpas |
A |
G |
4: 58,814,041 (GRCm39) |
V1355A |
probably benign |
Het |
Eno4 |
A |
G |
19: 58,931,977 (GRCm39) |
N30S |
possibly damaging |
Het |
Ero1a |
A |
C |
14: 45,529,887 (GRCm39) |
S349A |
probably benign |
Het |
Fat1 |
C |
T |
8: 45,493,737 (GRCm39) |
T3938I |
probably benign |
Het |
Focad |
T |
C |
4: 88,278,827 (GRCm39) |
|
probably null |
Het |
Gnai3 |
A |
T |
3: 108,016,775 (GRCm39) |
I343N |
probably damaging |
Het |
Golph3 |
T |
C |
15: 12,349,643 (GRCm39) |
V221A |
probably benign |
Het |
Gpr153 |
C |
A |
4: 152,364,370 (GRCm39) |
S142* |
probably null |
Het |
Itpr1 |
C |
A |
6: 108,357,993 (GRCm39) |
Y557* |
probably null |
Het |
Nat8f5 |
A |
G |
6: 85,794,934 (GRCm39) |
Y9H |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,429,650 (GRCm39) |
V1045A |
possibly damaging |
Het |
Nol8 |
T |
C |
13: 49,828,883 (GRCm39) |
V1047A |
possibly damaging |
Het |
Or2t48 |
A |
C |
11: 58,419,948 (GRCm39) |
L288R |
probably benign |
Het |
Or5p1 |
T |
A |
7: 107,916,725 (GRCm39) |
V208E |
probably benign |
Het |
Osbpl1a |
G |
A |
18: 12,899,881 (GRCm39) |
T178I |
probably damaging |
Het |
Palld |
T |
A |
8: 62,330,536 (GRCm39) |
I114F |
probably benign |
Het |
Pcca |
A |
T |
14: 122,927,557 (GRCm39) |
Y440F |
probably benign |
Het |
Pclo |
T |
C |
5: 14,728,549 (GRCm39) |
|
probably benign |
Het |
Piwil1 |
T |
C |
5: 128,827,037 (GRCm39) |
M599T |
possibly damaging |
Het |
Pkd1l2 |
T |
A |
8: 117,807,471 (GRCm39) |
Y189F |
possibly damaging |
Het |
Plscr3 |
A |
G |
11: 69,738,508 (GRCm39) |
K91R |
possibly damaging |
Het |
Rars1 |
A |
T |
11: 35,699,380 (GRCm39) |
C638S |
probably damaging |
Het |
Relb |
T |
A |
7: 19,345,619 (GRCm39) |
H406L |
probably benign |
Het |
Ros1 |
G |
T |
10: 51,977,899 (GRCm39) |
T1449K |
possibly damaging |
Het |
Scn2a |
T |
A |
2: 65,582,278 (GRCm39) |
I1542N |
probably damaging |
Het |
Sdk1 |
T |
A |
5: 142,170,930 (GRCm39) |
M1931K |
probably benign |
Het |
Sphk2 |
T |
C |
7: 45,361,077 (GRCm39) |
D309G |
possibly damaging |
Het |
Stil |
T |
C |
4: 114,889,986 (GRCm39) |
S825P |
probably damaging |
Het |
Swt1 |
C |
T |
1: 151,270,359 (GRCm39) |
|
probably null |
Het |
Virma |
C |
T |
4: 11,527,792 (GRCm39) |
R1228C |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,338,846 (GRCm39) |
H362Q |
probably benign |
Het |
Zfp451 |
C |
A |
1: 33,801,247 (GRCm39) |
M1056I |
probably benign |
Het |
Zfp458 |
T |
A |
13: 67,405,300 (GRCm39) |
M380L |
probably benign |
Het |
|
Other mutations in Samd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00532:Samd3
|
APN |
10 |
26,127,744 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00754:Samd3
|
APN |
10 |
26,120,425 (GRCm39) |
missense |
probably benign |
0.19 |
IGL02211:Samd3
|
APN |
10 |
26,109,455 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02397:Samd3
|
APN |
10 |
26,109,474 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02755:Samd3
|
APN |
10 |
26,120,475 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02885:Samd3
|
APN |
10 |
26,147,762 (GRCm39) |
missense |
probably benign |
0.43 |
IGL03115:Samd3
|
APN |
10 |
26,147,606 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03157:Samd3
|
APN |
10 |
26,139,740 (GRCm39) |
missense |
probably benign |
0.05 |
IGL03172:Samd3
|
APN |
10 |
26,106,064 (GRCm39) |
missense |
probably damaging |
1.00 |
BB006:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
BB016:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Samd3
|
UTSW |
10 |
26,147,398 (GRCm39) |
splice site |
probably benign |
|
R0081:Samd3
|
UTSW |
10 |
26,147,399 (GRCm39) |
splice site |
probably benign |
|
R0197:Samd3
|
UTSW |
10 |
26,147,752 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0566:Samd3
|
UTSW |
10 |
26,120,396 (GRCm39) |
missense |
possibly damaging |
0.83 |
R0632:Samd3
|
UTSW |
10 |
26,120,393 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0782:Samd3
|
UTSW |
10 |
26,146,138 (GRCm39) |
missense |
probably damaging |
0.97 |
R0834:Samd3
|
UTSW |
10 |
26,147,725 (GRCm39) |
missense |
probably benign |
0.01 |
R1106:Samd3
|
UTSW |
10 |
26,147,689 (GRCm39) |
missense |
possibly damaging |
0.57 |
R1844:Samd3
|
UTSW |
10 |
26,127,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R1907:Samd3
|
UTSW |
10 |
26,147,754 (GRCm39) |
nonsense |
probably null |
|
R1929:Samd3
|
UTSW |
10 |
26,139,884 (GRCm39) |
splice site |
probably benign |
|
R2925:Samd3
|
UTSW |
10 |
26,127,785 (GRCm39) |
missense |
probably benign |
0.37 |
R5104:Samd3
|
UTSW |
10 |
26,139,686 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5736:Samd3
|
UTSW |
10 |
26,146,070 (GRCm39) |
missense |
probably damaging |
1.00 |
R7120:Samd3
|
UTSW |
10 |
26,106,864 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7437:Samd3
|
UTSW |
10 |
26,146,004 (GRCm39) |
missense |
possibly damaging |
0.78 |
R7510:Samd3
|
UTSW |
10 |
26,106,006 (GRCm39) |
missense |
probably benign |
|
R7599:Samd3
|
UTSW |
10 |
26,139,711 (GRCm39) |
missense |
probably benign |
0.00 |
R7801:Samd3
|
UTSW |
10 |
26,139,770 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7806:Samd3
|
UTSW |
10 |
26,120,425 (GRCm39) |
missense |
probably benign |
0.19 |
R7820:Samd3
|
UTSW |
10 |
26,109,416 (GRCm39) |
splice site |
probably null |
|
R7929:Samd3
|
UTSW |
10 |
26,127,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R8298:Samd3
|
UTSW |
10 |
26,121,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R8979:Samd3
|
UTSW |
10 |
26,120,428 (GRCm39) |
missense |
possibly damaging |
0.93 |
R9381:Samd3
|
UTSW |
10 |
26,147,643 (GRCm39) |
missense |
probably benign |
0.08 |
|
Posted On |
2014-01-21 |